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SUFU

MIM.607035 10q24-q25

Saturday 18 June 2005

Definition: The gene SUFU encodes a component of the sonic hedgehog/patched signaling pathway (SHH/PTCH signaling pathway).

Pathology

- somatic mutations in

  • medulloblastoma

- Mutations in genes encoding components of this pathway are deleterious for normal development and are associated with cancer-predisposing syndromes:

  • HPE3 (MIM.142945)
  • BCNS (MIM.109400)
  • GCPS (MIM.175700).